181 related articles for article (PubMed ID: 21605424)
1. Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Chkioua L; Khedhiri S; Ferchichi S; Tcheng R; Chahed H; Froissart R; Vianey-Saban C; Laradi S; Miled A
Diagn Pathol; 2011 May; 6():42. PubMed ID: 21605424
[TBL] [Abstract][Full Text] [Related]
2. The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Chkioua L; Grissa O; Leban N; Gribaa M; Boudabous H; Turkia HB; Ferchichi S; Tebib N; Laradi S
BMC Med Genet; 2020 May; 21(1):111. PubMed ID: 32448126
[TBL] [Abstract][Full Text] [Related]
3. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Brusius-Facchin AC; Abrahão L; Schwartz IV; Lourenço CM; Santos ES; Zanetti A; Tomanin R; Scarpa M; Giugliani R; Leistner-Segal S
Gene; 2013 Sep; 526(2):150-4. PubMed ID: 23707223
[TBL] [Abstract][Full Text] [Related]
4. A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
Li XY; Shi XY; Ju J; Hu XH; Yang XF; Zou LP
World J Pediatr; 2012 Aug; 8(3):281-3. PubMed ID: 22622771
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov DA; Kuzenkova LM; Savost'anov KV; Gevorkyan AK; Pushkov AA; Nikitin AG; Vashakmadze ND; Zhurkova NV; Podkletnova TV; Namazova-Baranova LS; Baranov AA
J Genet Genomics; 2014 Apr; 41(4):197-203. PubMed ID: 24780617
[TBL] [Abstract][Full Text] [Related]
6. [Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].
Guo YB; Du CS
Zhonghua Er Ke Za Zhi; 2006 Feb; 44(2):110-3. PubMed ID: 16624026
[TBL] [Abstract][Full Text] [Related]
7. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga M; Mashima R; Hirakiyama A; Fuji N; Kumagai T; Seo JH; Nikaido M; Saito S; Ohno K; Sakuraba H; Okuyama T
Mol Genet Metab; 2016 Jul; 118(3):190-197. PubMed ID: 27246110
[TBL] [Abstract][Full Text] [Related]
8. Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W; Xie T; Sheng H; Shao Y; Lin Y; Jiang M; Xu A; Su X; Liu Z; Zhao X; Liu L; Huang Y
Clin Chim Acta; 2019 Apr; 491():114-120. PubMed ID: 30639582
[TBL] [Abstract][Full Text] [Related]
9. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Jurecka A; Krumina Z; Żuber Z; Różdżyńska-Świątkowska A; Kłoska A; Czartoryska B; Tylki-Szymańska A
Am J Med Genet A; 2012 Feb; 158A(2):450-4. PubMed ID: 22246721
[TBL] [Abstract][Full Text] [Related]
10. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Filocamo M; Bonuccelli G; Corsolini F; Mazzotti R; Cusano R; Gatti R
Hum Mutat; 2001 Aug; 18(2):164-5. PubMed ID: 11462244
[TBL] [Abstract][Full Text] [Related]
11. Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina AN; Voskoboeva EY; Zakharova EY; Nikolaeva EA; Kanivets IV; Kolotii AD; Baydakova GV; Kharabadze MN; Kuramagomedova RG; Melnikova NV
BMC Med Genet; 2019 May; 20(1):66. PubMed ID: 31046699
[TBL] [Abstract][Full Text] [Related]
12. [Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].
Dou W; Peng C; Zheng JK; Gu XF
Yi Chuan; 2007 Jan; 29(1):37-40. PubMed ID: 17284421
[TBL] [Abstract][Full Text] [Related]
13. Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Karsten SL; Voskoboeva E; Carlberg BM; Kleijer WJ; Tsnnesen T; Pettersson U; Bondeson ML
Hum Mutat; 1998; 12(6):433. PubMed ID: 10671065
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Bunge S; Steglich C; Beck M; Rosenkranz W; Schwinger E; Hopwood JJ; Gal A
Hum Mol Genet; 1992 Aug; 1(5):335-9. PubMed ID: 1303211
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P; Bellows AB; Thompson JN
J Med Genet; 1999 Jan; 36(1):21-7. PubMed ID: 9950361
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
Li Y; Mei S; Kong X; Zhao Z; Zhu X; Yang X; Qin Z; Wu H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):58-60. PubMed ID: 28186595
[TBL] [Abstract][Full Text] [Related]
17. [Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].
Jia B; Xue JJ; Liang DS; Wu LQ
Zhonghua Er Ke Za Zhi; 2009 Feb; 47(2):109-13. PubMed ID: 19573456
[TBL] [Abstract][Full Text] [Related]
18. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Zhong L; Gao X; Wang Y; Qiu W; Han L; Gu X; Zhang H
Clin Genet; 2023 Jun; 103(6):655-662. PubMed ID: 36945845
[TBL] [Abstract][Full Text] [Related]
19. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Bonuccelli G; Di Natale P; Corsolini F; Villani G; Regis S; Filocamo M
Biochim Biophys Acta; 2001 Nov; 1537(3):233-8. PubMed ID: 11731225
[TBL] [Abstract][Full Text] [Related]
20. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Sohn YB; Kim SJ; Park SW; Park HD; Ki CS; Kim CH; Huh SW; Yeau S; Paik KH; Jin DK
Am J Med Genet A; 2010 Dec; 152A(12):3129-32. PubMed ID: 21108396
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
